Table 2.
Distribution of diagnostic yield per a priori clinical diagnosis and sequencing technology
| A priori Clinical diagnosis | Patients underwent gene Sequencing, n | Families per a priori clinical diagnosis, n | Clinical characteristics | Sequencing technology | Diagnostic yield | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Median age at onset of ESKD, years (range) | CKD only in adulthood, n (%) | ESKD in adulthood, n (%) | ESKD in childhood, n (%) | Missing data of Renal Status | Gene-panel, n (%) | WES/WGS, n (%) | MUC1 and UMOD sequencing, n (%) | Disease-causing variant per patients, n (%) | Disease-causing variant per families, n (%) | |||
| PKD | 241 | 188 | 50 (6–83) | 85 (35.3) | 149 (61.8) | 3 (1.2) | 4 (1.7) | 235 (97.5) | 6 (2.5) | 0 (0) | 191 (79.2) | 148 (78.7) |
| CAKUT | 85 | 73 | 29 (3–66) | 20 (23.5) | 53 (62.4) | 10 (11.8) | 2 (2.3) | 31 (36.5) | 54 (63.5) | 0 (0) | 11 (12.8) | 7 (9.6) |
| TIKD | 75 | 39 | 34 (5–72) | 23 (30.7) | 33 (44) | 7 (9.3) | 12 (16) | 12 (16) | 23 (30.7) | 40 (53.3) | 49 (65.3) | 18 (46.2) |
| Chronic GN | 112 | 74 | 38.5 (9–68) | 35 (31.3) | 69 (61.6) | 5 (4.5) | 3 (2.6) | 52 (46.4) | 59 (52.7) | 1 (0.9) | 15 (13.4) | 6 (8.1) |
| FSGS | 39 | 20 | 40 (8–77) | 15 (38.4) | 18 (46.2) | 5 (12.8) | 1 (2.6) | 13 (38.1) | 26 (61.9) | 0 (0) | 24 (61.5) | 7 (35) |
| AS | 33 | 32 | 28 (15–77) | 13 (39.4) | 18 (54.5) | 2 (6.1) | 0 (0) | 25 (63.4) | 8 (36.6) | 0 (0) | 24 (72.7) | 18 (56.2) |
| Tubular | 4 | 4 | 38 | 3 (80) | 1 (20) | 0 (0) | 0 (0) | 2(50) | 2(50) | 0 (0) | 4 (100) | 4 (100) |
| uCKD | 74 | 61 | 40 (9–71) | 16 (21.6) | 54(73) | 4 (5.4) | 0 (0) | 34 (45.9) | 38 (51.4) | 2 (2.7) | 22 (29.7) | 19 (31.1) |
| Others | 14 | 10 | 32 (6–62) | 5 (35.8) | 8 (57.1) | 1 (7.1) | 0 (0) | 12 (85.7) | 2 (14.3) | 0 (0) | 8 (57.1) | 6 (50) |
| Total | 677 | 501 | 30 (20–43) | 215 (31.8) | 403 (59.5) | 37 (5.5) | 22 (3.2) | 416 (61.4) | 218 (32.2) | 43 (6.4) | 348 (51.4) | 233 (46.5) |
AS Alport syndrome, CAKUT congenital anomalies of the kidney and urinary tract, CKD Chronic kidney disease, ESKD end stage kidney disease, FSGS focal segmental glomerulosclerosis, MUC1 mucin 1 gene, GN glomerulonephritis, PKD polycystic kidney disease, uCKD CKD of uncertain aetiology, TIKD tubulointerstitial kidney disease, WES whole-exome sequencing, WGS whole-genome sequencing